Cardiomyopathy, familial dilated

Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. DCM has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year (but may be under diagnosed). In many cases the disease is inherited and is termed familial DCM (FDC). FDC may account for 20–48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Family history analysis is an important tool for identifying families affected by FDC. Standard criteria for evaluating FDC families have been published and the use of such criteria is increasing. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. This presents an opportunity to invoke lifestyle changes and to provide pharmacological therapy earlier in the course of disease. Genetic counseling is used to identify additional asymptomatic family members who are at risk of developing symptoms, allowing for regular screening of these individuals. The management of FDC focuses on limiting the progression of heart failure and controlling arrhythmia, and is based on currently accepted treatment guidelines for DCM. It includes general measures (salt and fluid restriction, treatment of hypertension, limitation of alcohol intake, control of body weight, moderate exercise) and pharmacotherapy. Cardiac resynchronization, implantable cardioverter defibrillators and left ventricular assist devices have progressively expanding usage. Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection fraction have a low survival rate and may require heart transplant

New features of desiccation tolerance in the lichen photobiont Trebouxia gelatinosa are revealed by a transcriptomic approach.

Trebouxia is the most common lichen-forming genus of aero-terrestrial green algae and all its species are desiccation tolerant (DT). The molecular bases of this remarkable adaptation are, however, still largely unknown. We applied a transcriptomic approach to a common member of the genus, T. gelatinosa, to investigate the alteration of gene expression occurring after dehydration and subsequent rehydration in comparison to cells kept constantly hydrated. We sequenced, de novo assembled and annotated the transcriptome of axenically cultured T. gelatinosa by using Illumina sequencing technology. We tracked the expression profiles of over 13,000 protein-coding transcripts. During the dehydration/rehydration cycle c. 92 % of the total protein-coding transcripts displayed a stable expression, suggesting that the desiccation tolerance of T. gelatinosa mostly relies on constitutive mechanisms. Dehydration and rehydration affected mainly the gene expression for components of the photosynthetic apparatus, the ROS-scavenging system, Heat Shock Proteins, aquaporins, expansins, and desiccation related proteins (DRPs), which are highly diversified in T. gelatinosa, whereas Late Embryogenesis Abundant Proteins were not affected. Only some of these phenomena were previously observed in other DT green algae, bryophytes and resurrection plants, other traits being distinctive of T. gelatinosa, and perhaps related to its symbiotic lifestyle. Finally, the phylogenetic inference extended to DRPs of other chlorophytes, embryophytes and bacteria clearly pointed out that DRPs of chlorophytes are not orthologous to those of embryophytes: some of them were likely acquired through horizontal gene transfer from extremophile bacteria which live in symbiosis within the lichen thallus

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Ozone tolerance in lichens: a possible explanation from biochemical to physiological level using Flavoparmelia caperata as test organism

Lichens are among the best biomonitors of airborne pollutants, but surprisingly they reveal high tolerance to ozone (O3). It was recently suggested that this might be due to the high levels of natural defences against oxidative stress, related to their poikilohydric life strategy. The objective of this work is to give a thorough description of the biochemical and physiological mechanisms that are at the basis of the O3-tolerance of lichens. Chlorophyll a fluorescence (ChlaF) emission, histochemical ROS localization in the lichen thallus, and biochemical markers [enzymes and antioxidants involved in the ascorbate/glutathione (AsA/GSH) cycle; hydrogen peroxide (H2O2) and superoxide anion (O2 •−)] were used to characterize the response of the epiphytic lichen Flavoparmelia caperata (L.) Hale exposed to O3 (250 ppb, 5 h d−1, 2 weeks) at different watering regimes and air relative humidity (RH) in a fumigation chamber. After two-week exposure ChlaF was affected by the watering regime but not by O3. The watering regime influenced also the superoxide dismutase activity and the production of ROS. By contrast O3 strongly influenced the AsA/GSH biochemical pathway, decreasing the reduced ascorbate (AsA) content and increasing the enzymatic activity of ascorbate peroxidase (APX), dehydroascorbate reductase (DHAR) and glutathione reductase (GR) independently from the watering regime and the relative humidity applied. This study highlights that F. caperata can face the O3-induced oxidative stress thanks to high levels of constitutive enzymatic and non-enzymatic defences against ROS formed naturally during the dehydration–rehydration cycles to which lichens are frequently exposed

Potential horizontal gene transfer (HGT) of Desiccation Related Proteins in the lichen photobiont Trebouxia gelatinosa

Desiccation Related Proteins (DRPs), firstly described in desiccation tolerant plants, are present also in several unrelated bacterial and algal groups. Although their role is still unknown, their presence seems to confer an increased desiccation tolerance in some extremophile bacteria, including the Deinococcus/Thermus phylum. In this study we describe our findings on the DRPs present in the transcriptome of Trebouxia gelatinosa, a member of the most common lichen-forming genus of green algae. Thirteen sequences were classified as DRPs: they are characterized by a c.170 aa long ferritin-like domain (PF13668), followed by one or two domains of unknown function. This gene family has undergone relevant expansion in T. gelatinosa: in the majority of green algae DRPs are present in few copies or they are completely absent. Further, their diversification finds no parallelism in other desiccation tolerant organisms investigated so far. Bayesian phylogenetic inference pointed out that DRPs of green algae are unlikely to be orthologous to those found in Embryophyta. Conversely, they share an unexpected sequence similarity to DRPs found in bacteria. This result led us to consider a bacterial origin for Trebouxia DRP genes, which may have ancestrally been acquired by horizontal gene transfer (HGT) from lichen-associated bacteria

The desiccation-related proteins in Trebouxia: a family to discover

The transcriptome of Trebouxia gelatinosa, belonging to one of the most common genus of lichen photobionts, gave an interesting overview of the mechanisms that underlay the desiccation tolerance in this species, regarding structure, physiology and biochemistry. The analysis of the annotated transcripts of both the dehydrated and rehydrated cultured alga revealed interesting and peculiar features of this poikilohydric organism. In particular the presence of a large number of desiccation-related proteins (DRPs) was highlighted, most of them affected by at least one of the two treatments. The DRP family has been first described in the resurrection plants, then also in other plants and in green algae. In T. gelatinosa 13 sequences are classified as desiccation-related proteins. These identified sequences, clearly pertaining to the same multigenic family, are usually characterized by a c.170 a long ferritinlike domain (PF13668), followed by a C-terminal region of variable length without known annotated domains. Nine out of the 13 annotated transcripts were significantly responsive to dehydration and/or rehydration by either being up- or down-regulated. Because the number of DRP genes predicted in the analysed genomes of vascular plants is generally low - ranging from 0 to 5 - this gene family seems to have undergone an expansion in T. gelatinosa. Although the exact role of DRPs in the dehydration/rehydration processes is still unclear, their massive response, both in terms of gene number and fold change, to the hydric status of T. gelatinosa points out that they are prominent players in drought tolerance not only in resurrection plants but also in lichen photobionts. Our study aims at expanding the knowledge of the DRP family in rebouxia, in order to understand the role of these proteins and their expansion in desiccation tolerance and in relation to lichen symbiosis